Anne H. O’Donnell-Luria

Jul 11, 2024 | nature.com | Yuyang Chen |Ruebena Dawes |Hyung Chul Kim |Sarah Stenton |Susan Walker |Jenny Lord | +42 more

AbstractAround 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding RNA RNU4-2 as a syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome2.

Jan 15, 2024 | nature.com | Masahiro Kanai |Qingbo Wang |Jessica Alföldi |William Phu |Yossi Farjoun |Anne H. O’Donnell-Luria | +4 more

Correction to: Nature https://doi.org/10.1038/s41586-023-06045-0 Published online 6 December 2023In the version of this article initially published, data points did not appear in Supplementary Figs. 6–8, and are now included in the online version of the Supplementary Information. About this articleChen, S., Francioli, L.C., Goodrich, J.K. et al. Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes. Nature (2024).

Dec 6, 2023 | nature.com | Masahiro Kanai |Qingbo Wang |Jessica Alföldi |Yossi Farjoun |Anne H. O’Donnell-Luria |Alicia Martin | +4 more

AbstractThe depletion of disruptive variation caused by purifying natural selection (constraint) has been widely used to investigate protein-coding genes underlying human disorders1,2,3,4, but attempts to assess constraint for non-protein-coding regions have proved more difficult.

Dec 6, 2023 | nature.com | Laurent C. Francioli |Sarah Stenton |Samantha Baxter |Benjamin M. Neale |Joel N. Hirschhorn |Heidi Rehm | +3 more

AbstractRecessive diseases arise when both copies of a gene are impacted by a damaging genetic variant. When a patient carries two potentially causal variants in a gene, accurate diagnosis requires determining that these variants occur on different copies of the chromosome (that is, are in trans) rather than on the same copy (that is, in cis). However, current approaches for determining phase, beyond parental testing, are limited in clinical settings.

Mar 15, 2023 | spectrumnews.org | Maaisha Osman |Anne H. O’Donnell-Luria

Pilot phase: NeuroDev collected genetic and clinical data from 100 parent-child trios in its first year. Courtesy of NeuroDev Study Listen to this story:In May 2019, the pouring rain in Kilifi, Kenya, was putting a damper on Patricia Kipkemoi’s data-collection plans.